ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.3441G>A (p.Glu1147=)

gnomAD frequency: 0.00001  dbSNP: rs371875533
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554538 SCV000636896 benign Hajdu-Cheney syndrome 2024-01-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000597377 SCV000709646 likely benign not specified 2017-06-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884609 SCV004701039 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing NOTCH2: BP4, BS1

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